Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs58430496
rs58430496
1 1.000 0.040 2 214834723 intron variant C/T snv 0.11 0.700 1.000 1 2017 2017
dbSNP: rs6715570
rs6715570
1 1.000 0.040 2 214808716 intron variant T/A;C snv 0.700 1.000 1 2009 2009
dbSNP: rs6744811
rs6744811
1 1.000 0.040 2 214812584 intron variant A/C;T snv 0.700 1.000 1 2009 2009
dbSNP: rs17489363
rs17489363
3 0.882 0.080 2 214809617 5 prime UTR variant A/G snv 0.73 0.74 0.020 1.000 2 2018 2019
dbSNP: rs1048108
rs1048108
5 0.827 0.120 2 214809500 missense variant G/A snv 0.38 0.33 0.010 1.000 1 2018 2018